U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Abnormal cervical curvature

MedGen UID:
462873
Concept ID:
C3151523
Finding
Synonym: Abnormal neck curve
 
HPO: HP:0005905

Definition

The presence of an abnormal curvature of the cervical vertebral column. [from HPO]

Term Hierarchy

Conditions with this feature

X-linked lethal multiple pterygium syndrome
MedGen UID:
374225
Concept ID:
C1839440
Disease or Syndrome
X-linked lethal multiple pterygium syndrome is a rare, genetic, developmental defect during embryogenesis characterized by the typical lethal multiple pterygium syndrome presentation (comprising of multiple pterygia, severe arthrogryposis, cleft palate, cystic hygromata and/or fetal hydrops, skeletal abnormalities and fetal death in the 2nd or 3rd trimester) with an X-linked pattern of inheritance.
Lethal multiple pterygium syndrome
MedGen UID:
381473
Concept ID:
C1854678
Disease or Syndrome
In people with multiple pterygium syndrome, Escobar type, the webbing typically affects the skin of the neck, fingers, forearms, inner thighs, and backs of the knee. People with this type may also have arthrogryposis. A side-to-side curvature of the spine (scoliosis) is sometimes seen. Affected individuals may also have respiratory distress at birth due to underdeveloped lungs (lung hypoplasia). People with multiple pterygium syndrome, Escobar type usually have distinctive facial features including droopy eyelids (ptosis), outside corners of the eyes that point downward (downslanting palpebral fissures), skin folds covering the inner corner of the eyes (epicanthal folds), a small jaw, and low-set ears. Males with this condition can have undescended testes (cryptorchidism). This condition does not worsen after birth, and affected individuals typically do not have muscle weakness later in life.\n\nThe two forms of multiple pterygium syndrome are differentiated by the severity of their symptoms. Multiple pterygium syndrome, Escobar type (sometimes referred to as Escobar syndrome) is the milder of the two types. Lethal multiple pterygium syndrome is fatal before birth or very soon after birth.\n\nLethal multiple pterygium syndrome has many of the same signs and symptoms as the Escobar type. In addition, affected fetuses may develop a buildup of excess fluid in the body (hydrops fetalis) or a fluid-filled sac typically found on the back of the neck (cystic hygroma). Individuals with this type have severe arthrogryposis. Lethal multiple pterygium syndrome is associated with abnormalities such as underdevelopment (hypoplasia) of the heart, lung, or brain; twisting of the intestines (intestinal malrotation); kidney abnormalities; an opening in the roof of the mouth (a cleft palate); and an unusually small head size (microcephaly). Affected individuals may also develop a hole in the muscle that separates the abdomen from the chest cavity (the diaphragm), a condition called a congenital diaphragmatic hernia. Lethal multiple pterygium syndrome is typically fatal in the second or third trimester of pregnancy.\n\nMultiple pterygium syndrome is a condition that is evident before birth with webbing of the skin (pterygium) at the joints and a lack of muscle movement (akinesia) before birth. Akinesia frequently results in muscle weakness and joint deformities called contractures that restrict the movement of joints (arthrogryposis). As a result, multiple pterygium syndrome can lead to further problems with movement such as arms and legs that cannot fully extend.

Professional guidelines

PubMed

Lee JV, Huguenard AL, Dacey RG, Braverman AC, Osbun JW
J Am Heart Assoc 2024 Jul 2;13(13):e035171. Epub 2024 Jun 21 doi: 10.1161/JAHA.124.035171. PMID: 38904248

Recent clinical studies

Etiology

Gao K, Zhang J, Lai J, Liu W, Lyu H, Wu Y, Lin Z, Cao Y
Medicine (Baltimore) 2019 Aug;98(31):e16545. doi: 10.1097/MD.0000000000016545. PMID: 31374017Free PMC Article
Chen CJ, Hsu HL, Tseng YC, Lyu RK, Chen CM, Huang YC, Wang LJ, Wong YC, See LC
Radiology 2004 Apr;231(1):39-44. doi: 10.1148/radiol.2311030004. PMID: 15068939
Naderi S, Ozgen S, Pamir MN, Ozek MM, Erzen C
Neurosurgery 1998 Jul;43(1):43-9; discussion 49-50. doi: 10.1097/00006123-199807000-00028. PMID: 9657187

Diagnosis

Wang Y, Zhou H, Yang Z, Samuel OW, Liu W, Cao Y, Li G
Annu Int Conf IEEE Eng Med Biol Soc 2018 Jul;2018:3280-3283. doi: 10.1109/EMBC.2018.8512896. PMID: 30441092
Abdel-Aziz M, Azab N, El-Badrawy A
Curr Opin Otolaryngol Head Neck Surg 2018 Dec;26(6):375-381. doi: 10.1097/MOO.0000000000000488. PMID: 30234660
Dejobert M, Geffray A, Delpierre C, Chassande B, Larrieu E, Magni C
Diagn Interv Imaging 2013 Mar;94(3):319-23. Epub 2013 Jan 14 doi: 10.1016/j.diii.2012.10.008. PMID: 23332131
Sonwalkar HA, Shah RS, Khan FK, Gupta AK, Bodhey NK, Vottath S, Purkayastha S
Neurol India 2008 Jan-Mar;56(1):22-6. doi: 10.4103/0028-3886.39307. PMID: 18310832
Chen CJ, Hsu HL, Tseng YC, Lyu RK, Chen CM, Huang YC, Wang LJ, Wong YC, See LC
Radiology 2004 Apr;231(1):39-44. doi: 10.1148/radiol.2311030004. PMID: 15068939

Prognosis

Chen CJ, Hsu HL, Tseng YC, Lyu RK, Chen CM, Huang YC, Wang LJ, Wong YC, See LC
Radiology 2004 Apr;231(1):39-44. doi: 10.1148/radiol.2311030004. PMID: 15068939
Naderi S, Ozgen S, Pamir MN, Ozek MM, Erzen C
Neurosurgery 1998 Jul;43(1):43-9; discussion 49-50. doi: 10.1097/00006123-199807000-00028. PMID: 9657187

Clinical prediction guides

Sonwalkar HA, Shah RS, Khan FK, Gupta AK, Bodhey NK, Vottath S, Purkayastha S
Neurol India 2008 Jan-Mar;56(1):22-6. doi: 10.4103/0028-3886.39307. PMID: 18310832
Chen CJ, Hsu HL, Tseng YC, Lyu RK, Chen CM, Huang YC, Wang LJ, Wong YC, See LC
Radiology 2004 Apr;231(1):39-44. doi: 10.1148/radiol.2311030004. PMID: 15068939
Naderi S, Ozgen S, Pamir MN, Ozek MM, Erzen C
Neurosurgery 1998 Jul;43(1):43-9; discussion 49-50. doi: 10.1097/00006123-199807000-00028. PMID: 9657187

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...